Human skin and hair color are visible traits that can vary dramatically within and across
ethnic populations. The genetic makeup of these traits—including polymorphisms in the …

Terrestrial solar ultraviolet radiation (UVR) exerts both beneficial and adverse effects on
human skin. Epidemiological studies show a lower incidence of skin cancer in people with …

Albinism is a clinically and genetically heterogeneous disease characterized by variable
degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic …

Genetic diseases have been historically segregated into rare Mendelian disorders and
common complex conditions. Large-scale studies using genome sequencing are eroding …

Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected
individuals have variably decreased global pigmentation and visual-developmental …

Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin
biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a …

Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk
in< 40% of melanoma-prone families, suggesting the existence of additional high-risk genes …

Summary Oculocutaneous albinism type 1 (OCA 1) is an autosomal recessive disorder
caused by mutations in the tyrosinase gene. Two subtypes of OCA 1 have been described …

Human pigmentation characteristics play an important role in the effects of sun exposure,
skin cancer induction and disease outcomes. Several of the genes most important for this …

Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are
associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and …